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Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD).

European journal of medical genetics - 1 Sept 2020

Duquesne Sophie, Nassogne Marie-Cécile, Clapuyt Philippe, Stouffs Katrien, Sznajer Yves

Abstract excerpt

Malformations of cortical development (MCD) represent a large group of brain cortical anomalies characterized by distinctive MRI findings. This 'radiologically-based' classification required re evaluation over time on identified underlying mechanisms (cytogenetic and/or molecular). The understanding of genotype findings (nature of cytogenetic/molecular mutation, cellular pathways consequences, timing, …) draw...

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Malformations of Cortical Development

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PMID: 32562872
DOI: 10.1016/j.ejmg.2020.103991

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